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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessC9orf72-FTD + C9orf72-ALS; expanded differential diagnosis

Summary

Short information

Large panel for C9orf72 gene; comprehensively expanding the differential diagnosis, comprising 6 guideline-curated core and core candidate genes, in summary 12 guideline-curated genes and altogether >180 curated genes according to the clinical signs

ID
FP0131
Number of genes
124 Accredited laboratory test
Examined sequence length
14,9 kb (Core-/Core-canditate-Genes)
285,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS + [X]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
C9orf721446AD
CHMP2B642AD
FUS1581AD
HTT9429AD
SOD1465Ass
TARDBP1245AR
ABCA76441Sus
ABCD12238XLR
ADAR2796AD, AR
AKAP911724AR
ALDH18A12388AD, AR
ALDH3A21458AR
ALS24974AR
AMPD22478AR
ANG444AD
ANXA111518AD
AP4B12220AR
AP4E13414AR
AP4M11362AR
AP4S1480AR
AP5Z12424AR
AR2763XLR
ATAD3A1761AD, AR
ATL11677AD
ATP2B43513AD
B4GALNT11437AR
BICD22568AD
BIN11782AR
BSCL21197AD
C19orf12459AR
CASS42367n.k.
CD2AP1920n.k.
CD331235n.k.
CHCHD10429AD
CLU1350n.k.
CPT1C2379AD
CYP27A11596AR
CYP2U11635AR
CYP7B11521AR
DAO1044Ass
DCTN13837AD
DDHD12640AR
DDHD22136AR
DNM22613AD
ENTPD11554AR
EPHA12949n.k.
ERBB43927AD
ERLIN11047AR
ERLIN21020AR
FA2H1119AR
FERMT22150n.k.
FIG42724AD, AR
GAD11785AR
GBA22784AR
GBE12109AR
GJC21320AR
GRID23024AR
GRN1782AD
HEXA1590AR
HNRNPA11119AD
HNRNPA2B11026AD
HSPD11722AD, AR
IBA571071AR
INPP5D3493n.k.
KIF1A5073AD, AR
KIF1C3312AR
KIF5A3099AD
KLC22244AR
KLC41999
  • No OMIM-Gs linked
AR
L1CAM3774XLR
MAPT1326AD
MARS12703AD, AR
MATR32544AD
MEF2C1422AD
MOBP667n.k.
MS4A4E1425n.k.
MS4A6A762n.k.
MTRFR501AR
NEK13777AD
NIPA1990AD
NT5C21686AR
OPTN1734Ass
PGAP12769AR
PICALM1833AR
PLD31473AR
PLP1834XLR
PNPLA63984AR
PRNP762AD
PSEN11404AD
PSEN21347AD
PTK2B3060AD
REEP1606AD
REEP2765AD, AR
RTN21638AD, AR
SCFD12219AD
SETX8034AR
SLC16A21620XL
SLC33A11650AD, AR
SMN1885AR
SORL16645AR
SPART2001AR
SPAST1851Sus
SPG117332AR
SPG21927AR
SPG72388AD, AR
SPTLC11422AD
SQSTM11323AR
TAF151770AR
TBK12190AD
TECPR23804AR
TFG1203AD, AR
TREM2660AR
TUBA4A1347AD
TUBB4A1335AD
UBQLN21875n.k.
UNC13A5214AD
UNC5C2796AD
USP83357AR
VAPB732AD
VCP2421AD
WASHC53480AR
WDR482034AR
ZFYVE267620AR
ZFYVE271251AD

Informations about the disease

Synonyms
  • Alias: C9orf72-related Huntington disease phenocopy
  • Alias: C9orf72-related Huntington disease-like syndrome
  • Alias: Huntington disease phenocopy due to C9ORF72 expansions
  • Alias: Huntington disease-like syndrome due to C9ORF72 expansions
  • Allelic: Acne inversa, familial, 3 (PSEN1)
  • Allelic: Adrenomyeloneuropathy, adult (ABCD1)
  • Allelic: Alzheimer disease, type 3, with spastic paraparesis + apraxia (PSEN1)
  • Allelic: Alzheimer disease, type 3, with spastic paraparesis + unusual plaques (PSEN1)
  • Allelic: Androgen insensitivity (AR)
  • Allelic: Androgen insensitivity, partial, with/-out breast cancer (AR)
  • Allelic: Aphasia, primary progressive (GRN)
  • Allelic: Bile acid synthesis defect, congenital, 3 (CYP7B1)
  • Allelic: Brugada syndrome 9 (KCND3)
  • Allelic: Cardiomyopathy, dilated, 1U (PSEN1)
  • Allelic: Cardiomyopathy, dilated, 1V (PSEN2)
  • Allelic: Cerebral amyloid angiopathy, PRNP-related (PRNP)
  • Allelic: Ceroid lipofuscinosis, neuronal, 11 (GRN)
  • Allelic: Chromosome 5q14.3 deletion syndrome (MEF2C)
  • Allelic: Congenital cataracts, hearing loss + neurodegeneration (SLC33A1)
  • Allelic: Corpus callosum, partial agenesis of (L1CAM)
  • Allelic: Creutzfeldt-Jakob disease (PRNP)
  • Allelic: Cutis laxa, AD 3 (ALDH18A1)
  • Allelic: Cutis laxa, AR, type IIIA (ALDH18A1)
  • Allelic: Dermatofibrosarcoma protuberans (PDGFB)
  • Allelic: Dyschromatosis symmetrica hereditaria (ADAR)
  • Allelic: Encephalopathy, acute, infection-induced, herpes-specific, susceptibility to, 8 (TBK1)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 11 (CLCN2)
  • Allelic: Epilepsy, juvenile absence, susceptibility to, 2 (CLCN2)
  • Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 8 (CLCN2)
  • Allelic: Essential tremor, hereditary, 4 (FUS)
  • Allelic: Gerstmann-Straussler disease (PRNP)
  • Allelic: Glaucoma 1, open angle, E (OPTN)
  • Allelic: Glaucoma, normal tension, susceptibility to (OPTN)
  • Allelic: Hydrocephalus due to aqueductal stenosis (L1CAM)
  • Allelic: Hydrocephalus with Hirschsprung disease (L1CAM)
  • Allelic: Hydrocephalus with congenital idiopathic intestinal pseudoobstruction (L1CAM)
  • Allelic: Hyperaldosteronism, familial, type II (CLCN2)
  • Allelic: Hyperferritinemia-cataract syndrome (FTL)
  • Allelic: Hypospadias 1, XL (AR)
  • Allelic: Insomnia, fatal familial (PRNP)
  • Allelic: Interstitial lung and liver disease (MARS syn. MARS1)
  • Allelic: Kuru, susceptibility to (PRNP)
  • Allelic: Lethal congenital contracture syndrome 5 (DNM2)
  • Allelic: Lipodystrophy, congenital generalized, type 2 (BSCL2)
  • Allelic: Long QT syndrome 11 (AKAP9)
  • Allelic: Lopes-Maciel-Rodan syndrome (HTT)
  • Allelic: Lymphatic malformation 3 (GJC2)
  • Allelic: Macular degeneration, age-related, 7 (HTRA1)
  • Allelic: Macular degeneration, age-related, neovascular type (HTRA1)
  • Allelic: Multiple mitochondrial dysfunctions syndrome 3 (IBA57)
  • Allelic: Myeloproliferative disorder with eosinophilia (PDGFRB)
  • Allelic: Myoclonus, intractable, neonatal (KIF5A)
  • Allelic: Myofibromatosis, infantile 2 (NOTCH3)
  • Allelic: Myofibromatosis, infantile, 1 (PDGFRB)
  • Allelic: Myopathy, isolated mitochondrial, AD (CHCHD10)
  • Allelic: Neuropathy, hereditary sensory, type ID (ATL1)
  • Allelic: Neuropathy, hereditary sensory, type IIC (KIF1A)
  • Allelic: Paget disease of bone 3 (SQSTM1)
  • Allelic: Pick disease (MAPT, PSEN1)
  • Allelic: Pituitary adenoma 4, ACTH-secreting, somatic (USP8)
  • Allelic: Polymicrogyria, bilateral temporooccipital (FIG4)
  • Allelic: Pontocerebellar hypoplasia, hypotonia, respiratory insuff. syndr., neonat. lethal (ATAD3A)
  • Allelic: Pontocerebellar hypoplasia, type 9 (AMPD2)
  • Allelic: Short-rib thoracic dysplasia 6 with or without polydactyly (NEK1)
  • Allelic: Spongiform encephalopathy with neuropsychiatric features (PRNP)
  • Allelic: Stargardt disease 3 (ELOVL4)
  • Allelic: Stuttering, familial persistent, 1 (AP4E1)
  • Allelic: Supranuclear palsy, progressive (MAPT)
  • Allelic: Supranuclear palsy, progressive atypical (MAPT)
  • Allelic: Yunis-Varon syndrome (FIG4)
  • 3-methylglutaconic aciduria, type I (AUH)
  • Adrenoleukodystrophy (ABCD1)
  • Adrenomyeloneuropathy, adult (ABCD1)
  • Aicardi-Goutieres syndrome 6 (ADAR)
  • Alexander disease (GFAP)
  • Allan-Herndon-Dudley syndrome [ID + muscle atrophy] (SLC16A2)
  • Alternating hemiplegia of childhood 2 (ATP1A3)
  • Alzheimer disease 1, familial (APP)
  • Alzheimer disease 9, susceptibility to (ABCA7)
  • Alzheimer disease, susceptibility to [genereviews] (AKAP9)
  • Alzheimer disease, susceptibility to [genereviews] (CASS4)
  • Alzheimer disease, susceptibility to [genereviews] (CD2AP)
  • Alzheimer disease, susceptibility to [genereviews] (CD33)
  • Alzheimer disease, susceptibility to [genereviews] (CLU)
  • Alzheimer disease, susceptibility to [genereviews] (EPH1)
  • Alzheimer disease, susceptibility to [genereviews] (FERMT2)
  • Alzheimer disease, susceptibility to [genereviews] (HLA-DRB1)
  • Alzheimer disease, susceptibility to [genereviews] (HLA-DRB5)
  • Alzheimer disease, susceptibility to [genereviews] (INP55D)
  • Alzheimer disease, susceptibility to [genereviews] (MS4A4E)
  • Alzheimer disease, susceptibility to [genereviews] (MS4A6A)
  • Alzheimer disease, susceptibility to [genereviews] (PICALM)
  • Alzheimer disease, susceptibility to [genereviews] (PLD3)
  • Alzheimer disease, susceptibility to [genereviews] (PTK2B)
  • Alzheimer disease, susceptibility to [genereviews] (SORL1)
  • Alzheimer disease, susceptibility to [genereviews] (UNC5C)
  • Alzheimer disease, type 3 (PSEN1)
  • Alzheimer disease, type 3, with spastic paraparesis + apraxia (PSEN1)
  • Alzheimer disease, type 3, with spastic paraparesis + unusual plaques (PSEN1)
  • Alzheimer disease-4 (PSEN2)
  • Amyotrophic lateral sclerosis 1 (SOD1)
  • Amyotrophic lateral sclerosis 10, with/-out FTD (TARDBP)
  • Amyotrophic lateral sclerosis 11 (FIG4)
  • Amyotrophic lateral sclerosis 12 with/-out frontotemporal dementia (OPTN)
  • Amyotrophic lateral sclerosis 15, with/-out frontotemporal dementia (UBQLN2)
  • Amyotrophic lateral sclerosis 18 (PFN1)
  • Amyotrophic lateral sclerosis 19 (ERBB4)
  • Amyotrophic lateral sclerosis 2, juvenile (ALS2)
  • Amyotrophic lateral sclerosis 20 (HNRNPA1)
  • Amyotrophic lateral sclerosis 21 (MATR3)
  • Amyotrophic lateral sclerosis 22 with/-out frontotemporal dementia (TUBA4A)
  • Amyotrophic lateral sclerosis 23 (ANXA11)
  • Amyotrophic lateral sclerosis 4, juvenile (SETX)
  • Amyotrophic lateral sclerosis 5, juvenile (SPG11)
  • Amyotrophic lateral sclerosis 6, with/-out frontotemporal dementia (FUS)
  • Amyotrophic lateral sclerosis 8 (VABP)
  • Amyotrophic lateral sclerosis 9 (ANG)
  • Amyotrophic lateral sclerosis [MONDO:0004976] (DAO)
  • Amyotrophic lateral sclerosis, susceptibility to (DCTN1)
  • Amyotrophic lateral sclerosis, susceptibility to (TAF15)
  • Amyotrophic lateral sclerosis, susceptibility to (UNC13A)
  • Amyotrophic lateral sclerosis, susceptibility to, 24 (NEK1)
  • Amyotrophic lateral sclerosis, susceptibility to, 25 (KIF5A)
  • Basal ganglia calcification, idiopathic, 1 (SLC20A2)
  • Basal ganglia calcification, idiopathic, 4 (PDGFRB)
  • Basal ganglia calcification, idiopathic, 5 (PDGFB)
  • Basal ganglia calcification, idiopathic, 6 (XPR1)
  • Basal ganglia calcification, idiopathic, 7, AR (MYORG)
  • Boucher-Neuhauser syndrome (PNPLA6)
  • Brain abnormalities, neurodegeneration + dysosteosclerosis (CSF1R)
  • CAPOS syndrome (ATP1A3)
  • CARASIL syndrome (HTRA1)
  • CRASH syndrome (L1CAM)
  • Centronuclear myopathy 1 (DNM2)
  • Centronuclear myopathy 2 (BIN1)
  • Cerebellar ataxia (CP)
  • Cerebellar ataxia + hypogonadotropic hypogonadism (RNF216)
  • Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
  • Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants (APP)
  • Cerebral amyloid angiopathy, PRNP-related (PRNP)
  • Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
  • Cerebral arteriopathy, AD, with subcortical infarcts + leukoencephalopathy, type 2 (HTRA1)
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type (CTSF)
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type), AD (DNAJC5)
  • Ceroid lipofuscinosis, neuronal, 6A (CLN6)
  • Ceroid lipofuscinosis, neuronal, 6B, Kufs type (CLN6)
  • Charcot-Marie-Tooth disease, DI B (DNM2)
  • Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
  • Charcot-Marie-Tooth disease, axonal, type 2U (MARS syn. MARS1)
  • Charcot-Marie-Tooth disease, axonal, type 2X (SPG11)
  • Charcot-Marie-Tooth disease, type 4J (FIG4)
  • Chediak-Higashi syndrome (LYST)
  • Choreoacanthocytosis (VPS13A)
  • Combined oxidative phosphorylation deficiency 7 (MTRFR)
  • Creutzfeldt-Jakob disease (PRNP)
  • Dementia, Lewy body (SNCA)
  • Dementia, familial British (ITM2B)
  • Dementia, familial Danish (ITM2B)
  • Dementia, frontotemporal (PSEN1)
  • Dementia, frontotemporal, with/-out parkinsonism (MAPT)
  • Developmental + epileptic encephalopathy 53 (SYNJ1)
  • Developmental + epileptic encephalopathy 89 (GAD1)
  • Developmental + epileptic encephalopathy 99 (ATP1A3)
  • Dystonia, DOPA-responsive, with/-out hyperphenylalaninemia (GCH1)
  • Dystonia-12 (ATP1A3)
  • Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
  • Epilepsy, progressive myoclonic 2A, Lafora (EPM2A)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9orf72_GGGGCC)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (CHCHD10)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (SQSTM1)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (TBK1)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 (CCNF)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (VCP)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (CHMP2B)
  • Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
  • Frontotemporal lobar degeneration, TARDBP-related (TARDBP)
  • GM2-gangliosidosis, several forms (HEXA)
  • Gerstmann-Straussler disease (PRNP)
  • Glycogen storage disease IV (GBE1)
  • HARP syndrome (PANK2)
  • Harel-Yoon syndrome (ATAD3A)
  • Hemosiderosis, systemic, due to aceruloplasminemia (CP)
  • Hereditary motor + sensory neuropathy, Okinawa type (TFG)
  • Huntington disease (HTT_CAG)
  • Huntington disease-like 1 (PRNP)
  • Hyperphenylalaninemia, BH4-deficient, B (GCH1)
  • Hypoceruloplasminemia, hereditary (CP)
  • Ichthyosis, spastic quadriplegia + mental retardation (ELOVL4)
  • Inclusion body myopathy + early-onset Paget disease with/-out frontotemporal dementia 2 (HNRNPA2B1)
  • Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia (HNRNPA1)
  • Infantile neuroaxonal dystrophy 1 (PLA2G6)
  • Kosaki overgrowth syndrome (PDGFRB)
  • Kufor-Rakeb syndrome (ATP13A2)
  • L-ferritin deficiency, AD + AR (FTL)
  • Lateral meningocele syndrome (NOTCH3)
  • Laurence-Moon syndrome (PNPLA6)
  • Leukodystrophy, hypomyelinating, 2 (GJC2)
  • Leukodystrophy, hypomyelinating, 4 (HSPD)
  • Leukoencephalopathy with ataxia (CLCN2)
  • Leukoencephalopathy with brain stem, spinal cord involvement + lactate elevation (DARS2)
  • Leukoencephalopathy with vanishing white matter (EIF2B1)
  • Leukoencephalopathy with vanishing white matter (EIF2B2)
  • Leukoencephalopathy with vanishing white matter (EIF2B3)
  • Leukoencephalopathy with vanishing white matter (EIF2B4)
  • Leukoencephalopathy with vanishing white matter (EIF2B5)
  • Leukoencephalopathy, diffuse hereditary, with spheroids 1 (CSF1R)
  • MASA syndrome (L1CAM)
  • Mast syndrome (SPG21)
  • Meningioma, SIS-related (PDGFB)
  • Metachromatic leukodystrophy (ARSA)
  • Mitochondrial complex III deficiency, nuclear type 2 (TTC19)
  • Myopathy, distal, with rimmed vacuoles (SQSTM1)
  • NESCAV syndrome (KIF1A)
  • Neurodegeneration with ataxia, dystonia + gaze palsy, childhood-onset (SQSTM1)
  • Neurodegeneration with brain iron accumulation 1 (PANK2)
  • Neurodegeneration with brain iron accumulation 2B (PLA2G6)
  • Neurodegeneration with brain iron accumulation 3 (FTL)
  • Neurodegeneration with brain iron accumulation 4 (C19orf12)
  • Neurodegeneration with brain iron accumulation 5 (WDR45)
  • Neurodegeneration with brain iron accumulation 6 (COASY)
  • Neurodevelopmental disorder, dysmorphic features, spasticity + brain abnormalities (PGAP1)
  • Neurodevelopmental disorder, hypotonia, stereotypic hand movements, impaired language (MEF2C)
  • Neuronopathy, distal hereditary motor, type VB (REEP1)
  • Neuronopathy, distal hereditary motor, type VIIB (DCTN1
  • Neuropathy, distal hereditary motor, type VC (BSCL2)
  • Neuropathy, hereditary sensory + autonomic, type IA (SPTLC1)
  • Neuropathy, hereditary sensory + autonomic, type IX, with developmental delay (TECPR2)
  • Neuropathy, hereditary sensory, type IE (DNMT1)
  • Niemann-Pick disease, types C1 + D (NPC1)
  • Niemann-pick disease, type C2 (NPC2)
  • Oliver-McFarlane syndrome (PNPLA6)
  • Ovarioleukodystrophy (EIF2B2)
  • Ovarioleukodystrophy (EIF2B4)
  • Ovarioleukodystrophy (EIF2B5)
  • Parkinson disease 1 (SNCA)
  • Parkinson disease 14, AR (PLA2G6)
  • Parkinson disease 17 (VPS35)
  • Parkinson disease 19a, juvenile-onset (DNAJC6)
  • Parkinson disease 19b, early-onset (DNAJC6)
  • Parkinson disease 20, early-onset (SYNJ1)
  • Parkinson disease 4 (SNCA)
  • Parkinson disease 6, early onset (PINK1)
  • Parkinson disease 7, AR early-onset (PARK7)
  • Parkinson disease 8 (LRRK2)
  • Parkinson disease, juvenile, type 2 (PRKN)
  • Pelizaeus-Merzbacher disease (PLP1)
  • Perry syndrome (DCTN1)
  • Pick disease (PSEN1)
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (TYROBP)
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (TREM2)
  • Polyglucosan body disease, adult form (GBE1)
  • Pontocerebellar hypoplasia, type 12 (COASY)
  • Premature aging syndrome, Penttinen type (PDGFRB)
  • Primary lateral sclerosis, juvenile (ALS2)
  • Progressive complicated spastic paraplegia [panelapp] (KLC4)
  • Retinal dystrophy with inner retinal dysfunction + ganglion cell abnormalities (ITM2B)
  • Ritscher-Schinzel syndrome 1 [craniocerebellocardiac dysplasia] (WASHC5)
  • Sandhoff disease, infantile, juvenile + adult forms (HEXB)
  • Silver spastic paraplegia syndrome (BSCL2)
  • Sjogren-Larsson syndrome (ALDH3A2)
  • Spastic ataxia 2, AR (KIF1C)
  • Spastic ataxia 5, AR (AFG3L2)
  • Spastic paralysis, infantile onset ascending (ALS2)
  • Spastic paraplegia 10, AD (KIF5A)
  • Spastic paraplegia 11, AR (SPG11)
  • Spastic paraplegia 12, AD (RTN2)
  • Spastic paraplegia 13, AD (HSPD)
  • Spastic paraplegia 15, AR (ZFYVE26)
  • Spastic paraplegia 18, AR (ERLIN2)
  • Spastic paraplegia 2, XL (PLP1)
  • Spastic paraplegia 26, AR (B4GALNT1)
  • Spastic paraplegia 28, AR (DDHD1)
  • Spastic paraplegia 30, AD (KIF1A)
  • Spastic paraplegia 30, AR (KIF1A)
  • Spastic paraplegia 31, AD (REEP1)
  • Spastic paraplegia 33, AD (ZFYVE17)
  • Spastic paraplegia 35, AR (FA2H)
  • Spastic paraplegia 39, AR (PNPLA6)
  • Spastic paraplegia 3A, AD (ATL1)
  • Spastic paraplegia 4, AD (SPAST)
  • Spastic paraplegia 42, AD (SLC33A1)
  • Spastic paraplegia 43, AR (C19orf12)
  • Spastic paraplegia 44, AR (GJC2)
  • Spastic paraplegia 45, AR (NT5C2)
  • Spastic paraplegia 46, AR (GBA2)
  • Spastic paraplegia 47, AR (AP4B1)
  • Spastic paraplegia 48, AR (AP5Z1)
  • Spastic paraplegia 50, AR (AP4M1)
  • Spastic paraplegia 51, AR (AP4E1)
  • Spastic paraplegia 52, AR (AP4S1)
  • Spastic paraplegia 54, AR (DDHD2)
  • Spastic paraplegia 55, AR (MTRFR)
  • Spastic paraplegia 56, AR (CYP2U1)
  • Spastic paraplegia 57, AR (TFG)
  • Spastic paraplegia 57, AR (USP8)
  • Spastic paraplegia 5A, AR (CYP7B1)
  • Spastic paraplegia 6, AD (NIPA1)
  • Spastic paraplegia 62 (ERLIN1)
  • Spastic paraplegia 63 (AMPD2)
  • Spastic paraplegia 64, AR (ENTPD1)
  • Spastic paraplegia 7, AR (SPG7)
  • Spastic paraplegia 72, AD (REEP2)
  • Spastic paraplegia 72, AR (REEP2)
  • Spastic paraplegia 73, AD (CPT1C)
  • Spastic paraplegia 74, AR (IBA57)
  • Spastic paraplegia 78, AR (ATP13A2)
  • Spastic paraplegia 8, AD (WASHC5)
  • Spastic paraplegia 9A, AD (ALDH18A1)
  • Spastic paraplegia 9B, AR (ALDH18A1)
  • Spastic paraplegia [GeneReviews] (ATP2B4)
  • Spastic paraplegia [GeneReviews] (WDR48)
  • Spastic paraplegia, optic atrophy + neuropathy (KLC2)
  • Spastic tetraplegia + axial hypotonia, progressive (SOD1)
  • Spinal + bulbar muscular atrophy of Kennedy (AR_CAG)
  • Spinal muscular atrophy, Jokela type (CHCHD10)
  • Spinal muscular atrophy, late-onset, Finkel type (VAPB)
  • Spinal muscular atrophy, lower extremity-predominant, 2A, AD (BICD2)
  • Spinal muscular atrophy, lower extremity-predominant, 2B, AD (BICD2)
  • Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
  • Spinocerebellar ataxia 13 (KCNC3)
  • Spinocerebellar ataxia 19 (KCND3)
  • Spinocerebellar ataxia 21 (TMEM240)
  • Spinocerebellar ataxia 28 (AFG3L2)
  • Spinocerebellar ataxia 34 (ELOVL4)
  • Spinocerebellar ataxia 42 (CACNA1G)
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (CACNA1G)
  • Spinocerebellar ataxia 46 (PLD3)
  • Spinocerebellar ataxia, AR 18 (GRID2)
  • Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)
  • Spongiform encephalopathy with neuropsychiatric features (PRNP)
  • Tay-Sachs disease (HEXA)
  • Troyer syndrome [spastic paraplegia, AR] (SPART)
  • Wilson disease (ATP7B)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Ass
  • Sus
  • XL
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
F02.8*

Bioinformatics and clinical interpretation

No text defined